There has been such immense progression in the field of medical science that today diverse forms of deformities can be detected in the fetus within the uterus itself. Such diagnosis of an unhealthy fetus provide an option to the parents to either abort the fetus at an adequate time or equips them to cope with a challenging situation in the years to come.
Some of the detection techniques utilized to diagnose Down syndrome in the unborn child include the expanded alpha-fetoprotein (AFP) screening test, the nuchal translucency test and additional ultrasound screenings. However, none of these tests give absolute confirmation on the prevalence of the syndrome.
Down syndrome is identified through the nuchal translucency test that is conducted during the 11th to 13th week of pregnancy via an ultrasound. Assessment is made by measuring the thickness of the fold in the neck of the fetus. Results of AFP are evaluated via a blood sample of the mother taken during 15 to 20 weeks of pregnancy. Careful analysis of certain anatomical characteristics of the fetus between 18 weeks and 22 weeks of pregnancy through an ultrasound can aid in further verification of the syndrome. Features that need to be examined to evaluate Down syndrome include the length of the bones, humerus or femur; the length of the nasal bridge; the size of the renal pelvis; small bright spots in the heart; small middle section of the little finger; a large gap between the first and second toe; increased brightness of the bowel and pelvic bone angle.
New born babies with Down syndrome can be identified with symptoms that include a flat face and nose, a short neck, small oral cavity with protruding tongue, small ears, eyes that slant upwards, white spots in the iris, short hands with a single crease in the palm and poor muscle tone. As the child grows, developmental milestones are delayed and the individual exhibits retarded physical and cognitive development.
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